274 related articles for article (PubMed ID: 14718298)
1. Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes.
Fishman GA; Roberts MF; Derlacki DJ; Grimsby JL; Yamamoto H; Sharon D; Nishiguchi KM; Dryja TP
Arch Ophthalmol; 2004 Jan; 122(1):70-5. PubMed ID: 14718298
[TBL] [Abstract][Full Text] [Related]
2. A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens.
Demirci FY; Rigatti BW; Mah TS; Gorin MB
Am J Ophthalmol; 2004 Jul; 138(1):171-3. PubMed ID: 15234312
[TBL] [Abstract][Full Text] [Related]
3. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.
Morimura H; Berson EL; Dryja TP
Invest Ophthalmol Vis Sci; 1999 Apr; 40(5):1000-4. PubMed ID: 10102299
[TBL] [Abstract][Full Text] [Related]
4. A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.
Littink KW; van Genderen MM; van Schooneveld MJ; Visser L; Riemslag FC; Keunen JE; Bakker B; Zonneveld MN; den Hollander AI; Cremers FP; van den Born LI
Ophthalmology; 2012 Sep; 119(9):1899-906. PubMed ID: 22559933
[TBL] [Abstract][Full Text] [Related]
5. Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens.
Nakamura M; Lin J; Ito Y; Miyake Y
Am J Ophthalmol; 2005 Jun; 139(6):1133-5. PubMed ID: 15953459
[TBL] [Abstract][Full Text] [Related]
6. Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.
Humbert G; Delettre C; Sénéchal A; Bazalgette C; Barakat A; Bazalgette C; Arnaud B; Lenaers G; Hamel CP
Invest Ophthalmol Vis Sci; 2006 Nov; 47(11):4719-24. PubMed ID: 17065479
[TBL] [Abstract][Full Text] [Related]
7. Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.
Dessalces E; Bocquet B; Bourien J; Zanlonghi X; Verdet R; Meunier I; Hamel CP
JAMA Ophthalmol; 2013 Oct; 131(10):1314-23. PubMed ID: 23929416
[TBL] [Abstract][Full Text] [Related]
8. Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
Schatz P; Preising M; Lorenz B; Sander B; Larsen M; Rosenberg T
Ophthalmology; 2011 May; 118(5):888-94. PubMed ID: 21211845
[TBL] [Abstract][Full Text] [Related]
9. Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.
Burstedt MS; Forsman-Semb K; Golovleva I; Janunger T; Wachtmeister L; Sandgren O
Arch Ophthalmol; 2001 Feb; 119(2):260-7. PubMed ID: 11176989
[TBL] [Abstract][Full Text] [Related]
10. Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.
Hipp S; Zobor G; Glöckle N; Mohr J; Kohl S; Zrenner E; Weisschuh N; Zobor D
Acta Ophthalmol; 2015 Jun; 93(4):e281-6. PubMed ID: 25429852
[TBL] [Abstract][Full Text] [Related]
11. Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.
Burstedt M; Jonsson F; Köhn L; Burstedt M; Kivitalo M; Golovleva I
Acta Ophthalmol; 2013 Aug; 91(5):437-44. PubMed ID: 22551409
[TBL] [Abstract][Full Text] [Related]
12. A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (
Torres-Costa S; Ferreira CS; Grangeia A; Santos-Silva R; Brandão E; Estrela-Silva S; Falcão-Reis F
Eur J Ophthalmol; 2021 May; 31(3):NP74-NP80. PubMed ID: 32345050
[TBL] [Abstract][Full Text] [Related]
13. Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26.
Burstedt MS; Sandgren O; Holmgren G; Forsman-Semb K
Invest Ophthalmol Vis Sci; 1999 Apr; 40(5):995-1000. PubMed ID: 10102298
[TBL] [Abstract][Full Text] [Related]
14. Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.
Katsanis N; Shroyer NF; Lewis RA; Cavender JC; Al-Rajhi AA; Jabak M; Lupski JR
Clin Genet; 2001 Jun; 59(6):424-9. PubMed ID: 11453974
[TBL] [Abstract][Full Text] [Related]
15. Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.
Maubaret CG; Vaclavik V; Mukhopadhyay R; Waseem NH; Churchill A; Holder GE; Moore AT; Bhattacharya SS; Webster AR
Invest Ophthalmol Vis Sci; 2011 Dec; 52(13):9304-9. PubMed ID: 22039234
[TBL] [Abstract][Full Text] [Related]
16. Effects of deficiency in the
Lima de Carvalho JR; Kim HJ; Ueda K; Zhao J; Owji AP; Yang T; Tsang SH; Sparrow JR
J Biol Chem; 2020 May; 295(19):6767-6780. PubMed ID: 32188692
[TBL] [Abstract][Full Text] [Related]
17. A NOVEL LARGE HOMOZYGOUS DELETION IN THE CELLULAR RETINALDEHYDE-BINDING PROTEIN GENE (RLBP1) IN A PATIENT WITH RETINITIS PUNCTATA ALBESCENS.
Bagheri S; Pantrangi M; Sodhi SK; Bagheri S; Oellers P; Scholl HPN
Retin Cases Brief Rep; 2020; 14(1):85-89. PubMed ID: 28827498
[TBL] [Abstract][Full Text] [Related]
18. X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.
Fishman GA; Grover S; Jacobson SG; Alexander KR; Derlacki DJ; Wu W; Buraczynska M; Swaroop A
Ophthalmology; 1998 Dec; 105(12):2286-96. PubMed ID: 9855162
[TBL] [Abstract][Full Text] [Related]
19. 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.
Gonzalez-Fernandez F; Kurz D; Bao Y; Newman S; Conway BP; Young JE; Han DP; Khani SC
Mol Vis; 1999 Dec; 5():41. PubMed ID: 10617778
[TBL] [Abstract][Full Text] [Related]
20. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.
Jacobson SG; Buraczynska M; Milam AH; Chen C; Järvaläinen M; Fujita R; Wu W; Huang Y; Cideciyan AV; Swaroop A
Invest Ophthalmol Vis Sci; 1997 Sep; 38(10):1983-97. PubMed ID: 9331262
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
